Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178477T= , CM000673.2:g.89178477T= | GRCh38 |
| NC_000011.9:g.88911645T= , CM000673.1:g.88911645T= | GRCh37 |
| NC_000011.8:g.88551293T= | NCBI36 |
| NG_008748.1:g.5606T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000372.5:c.524T= MANE Select | NP_000363.1:p.Leu175= |
| ENST00000263321.6:c.524T= MANE Select | ENSP00000263321.4:p.Leu175= |
| NM_000372.4:c.524T= | NP_000363.1:p.Leu175= |
| ENST00000263321.5:c.524T= | ENSP00000263321.4:p.Leu175= |
| ENST00000526139.1:n.585T= | |
| XM_011542970.1:c.524T= | XP_011541272.1:p.Leu175= |
| XM_011542970.2:c.524T= | XP_011541272.1:p.Leu175= |
| XR_001748321.1:n.2718-64944A= | |
| XR_001748322.1:n.2733-64944A= |